Use of T1 mapping in cardiovascular MRI in follow up of a pediatric fabry cohort

Abstract

Introduction

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a mutation on the alpha-galactosidase-A gene. The prognosis lies in the severity of the cardiac involvement which is the leading cause of mortality. Usually, it presents with hypertrophic cardiomyopathy, valvular disease, or conduction abnormalities. This process of storage is also present in every other organ and begins before birth. Enzyme replacement therapy (ERT) has shown a spectacular effect on extra-cardiac symptoms especially if started early in life. The effect of ERT on cardiac lesions is still a research question. Cardiac magnetic resonance (CMR) is a key exam in FD with its capacity of tissular characterization. But to date, there is a lack of data in the pediatric population to understand how to integrate CMR in early therapeutic decisions.

Methods

Monocentric cross-sectional study carried out in Montpellier University hospital from 2016 to 2022. All pediatric patients with FD were evaluated over time with clinical, biological and cardiac imaging (CMR, TEE). The objective was to determine the place of CMR in the therapeutic decisions.

Results/Expected results

In total, 6 patients were included, 3 boys/3 girls. Five patients were treated with ERT during the study. Low T1 values were observed in 4 patients. The normalization of T1 values was observed in the 4 years after ERT introduction for 3 patients (Figure 1).

Conclusion/Perspectives

CMR has to take an important role in the evaluation of FD. In the pediatric population, a recurrent assessment can be useful to detect the pejorative evolution of T1, especially in partial forms of Fabry disease. Obvious need of strong data is required to help the clinician in his daily practice.